DISEASES

Disease-gene associations mined from literature

Literature associating ASMTL and Carney complex

ASMTL [ENSP00000370718]

Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein; Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo- UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP . May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids . In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity (Probable). ; In the N-terminal section; belongs to the Maf family. YhdE subfamily.

Synonyms:  ASMTL,  O95671,  O95671p,  hO95671,  2P5X ...

Linkouts:  STRING  Pharos  UniProt